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Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Accogli A, Shakya S, Yang T, Insinna C, Kim SY, Bell D, Butov KR, Severino M, Niceta M, Scala M, Lee HS, Yoo T, Stauffer J, Zhao H, Fiorillo C, Pedemonte M, Diana MC, Baldassari S, Zakharova V, Shcherbina A, Rodina Y, Fagerberg C, Roos LS, Wierzba J, Dobosz A, Gerard A, Potocki L, Rosenfeld JA, Lalani SR, Scott TM, Scott D, Azamian MS, Louie R, Moore HW, Champaigne NL, Hollingsworth G, Torella A, Nigro V, Ploski R, Salpietro V, Zara F, Pizzi S, Chillemi G, Ognibene M, Cooney E, Do J, Linnemann A, Larsen MJ, Specht S, Walters KJ, Choi HJ, Choi M, Tartaglia M, Youkharibache P, Chae JH, Capra V, Park SG, Westlake CJ. Accogli A, et al. Among authors: capra v. Nat Commun. 2024 Jan 8;15(1):365. doi: 10.1038/s41467-023-44611-2. Nat Commun. 2024. PMID: 38191484 Free PMC article.
Rare deleterious variants in GRHL3 are associated with human spina bifida.
Lemay P, De Marco P, Emond A, Spiegelman D, Dionne-Laporte A, Laurent S, Merello E, Accogli A, Rouleau GA, Capra V, Kibar Z. Lemay P, et al. Among authors: capra v. Hum Mutat. 2017 Jun;38(6):716-724. doi: 10.1002/humu.23214. Epub 2017 Mar 24. Hum Mutat. 2017. PMID: 28276201
A novel Xp22.13 microdeletion in Nance-Horan syndrome.
Accogli A, Traverso M, Madia F, Bellini T, Vari MS, Pinto F, Capra V. Accogli A, et al. Among authors: capra v. Birth Defects Res. 2017 Jul 3;109(11):866-868. doi: 10.1002/bdr2.1032. Epub 2017 May 2. Birth Defects Res. 2017. PMID: 28464487
Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.
Accogli A, Iacomino M, Pinto F, Orsini A, Vari MS, Selmi R, Torella A, Nigro V, Minetti C, Severino M, Striano P, Capra V, Zara F. Accogli A, et al. Among authors: capra v. Neurol Genet. 2017 Aug 9;3(5):e179. doi: 10.1212/NXG.0000000000000179. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28815207 Free PMC article. No abstract available.
253 results